Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357029 Individual ID 00472220 Associated disease OPA Phenotype details HP:0000609, HP:0000648, HP:0001022 Diagnosis/Initial progressive visual impairment Inheritance Familial, autosomal recessive Diagnosis/Definite ACO2-related disorder Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - MotorSkills - Vision/Abnormality - Hearing/Loss - Eye/Optic_Disc - Protein - Brain/Imaging - Eye/OCT - Vision/Field - Vision/Acuity - Vision/Colour - Habits - Owner name Marketa Wayhelova Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marketa Wayhelova Date created 2026-01-17 09:44:18 +01:00 (CET) Date last edited 2026-02-04 19:20:05 +01:00 (CET)

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